# US 2022/0033907 A1 · Biomarkers > Agents: this data is available as JSON from the patentgrep API and MCP server — see https://patentgrep.com/llms.txt - Number: US 2022/0033907 A1 - Document ID: US20220033907A1 - Status: Published application - Kind: A1 - Application number: 17/430,877 - Filed: 2020-02-14 - Published: 2022-02-03 - Earliest claimed: 2019-02-14 - Applicants: University College Dublin, National University of Ireland Dublin; Royal College of Surgeons in Ireland - Inventors: Chris Watson; Mark Ledwidge; John Baugh; Nadezhda Glezeva; Sudipto Das - Web page: https://patentgrep.com/patent/US20220033907A1 ## CPC - C12Q 1/6883: for diseases caused by alterations of genetic material - G16H 50/20: for computer-aided diagnosis, e.g. based on medical expert systems - G16H 50/30: for calculating health indices; for individual health risk assessment - C12Q 2600/154: Methylation markers - C12Q 2600/158: Expression markers - C12Q 2600/178: miRNA, siRNA or ncRNA - C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES - G16H: HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA ## Abstract The invention provides a method of prognosing and/or diagnosing heart disease or heart failure in a subject, comprising determining the methylation status and/or expression level of at least one methylation marker selected from the group consisting of MFSD2B, miR24-1, TTPA, GALNT15, ITGBL1, SMOC2, MSR1, PVT1, MYOM3, COX17, MYBPC3, HEY2, and MRPL44 wherein the methylation status and/or expression level of at least one methylation marker is indicative of the prognosis and/or diagnosis of said subject. A panel of biomarkers, means, a kit and a device for use in assessing risk of HCM, ISCM and DCM are disclosed. ## Claims ### Claim 1 A method of prognosing and/or diagnosing heart disease or heart failure in a subject, comprising determining the methylation status and/or expression level of at least one methylation marker selected from the group consisting of MFSD2B, miR24-1, TTPA, GALNT15, ITGBL1, SMOC2, MSR1, PVT1, MYOM3, HEY2 and MRPL44; and/or determining the methylation status and/or expression level of at least one methylation marker selected from the group consisting of COX17 and MYBPC3, wherein the methylation status and/or expression level of at least one methylation marker is indicative of the prognosis and/or diagnosis of said subject. ### Claim 2 (canceled) ### Claim 3 (depends on 1) A method as claimed in claim 1 carried out on a sample from the subject. ### Claim 4 (depends on 3) A method as claimed in claim 3 wherein the sample is chosen from blood, cardiac tissue, urine or saliva. ### Claim 5 (depends on 1) The method of claim 1, wherein the prognosis and/or diagnosis of heart disease or heart failure includes the risk of developing HCM, HOCM, DCM or ISCM. ### Claim 6 (depends on 1) The method of claim 1, wherein the method comprises determining the methylation status and/or expression level of at least one methylation marker selected from the group consisting of MFSD2B, miR24-1, TTPA, GALNT15, ITGBL1, SMOC2, MSR1, PVT1, MYOM3, HEY2 and MRPL44; and further comprises determining the methylation status and/or expression level at least one methylation marker selected from the group consisting of COX17 and MYBPC3. ### Claim 7 (depends on 1) The method of claim 1, wherein the method further comprises determining the methylation status and/or expression level of at least one additional methylation marker selected from the group disclosed in Table 2. ### Claim 8 (depends on 1) The method of claim 1, wherein the methylation status and/or expression level of the methylation of at least one of MSR1, HEY2, MFSD2B, MYBPC3 and/or PVT1 is determined. ### Claim 9 (depends on 1) The method of claim 1, wherein the prognosis and/or diagnosis of heart disease or heart failure includes the risk of developing HCM or HOCM. ### Claim 10 (depends on 1) The method of claim 1, wherein the methylation status and/or expression level of the methylation of at least one of TTPA, MYOM3, COX17, SMOC2, ITGBL1 and/or PVT1 is determined. ### Claim 11 (depends on 1) The method of claim 1, wherein the prognosis and/or diagnosis of heart disease or heart failure includes the risk of developing ISCM. ### Claim 12 (depends on 1) The method of claim 1, wherein the methylation status and/or expression level of the methylation of at least MRPL44, GALNT15, miR24-1 and/or PVT1 is determined. ### Claim 13 (depends on 1) The method of claim 1, wherein the prognosis and/or diagnosis of heart disease or heart failure includes the risk of developing DCM. ### Claim 14 (depends on 1) A panel of biomarkers comprising at least one of the biomarkers selected from the group consisting of MFSD2B, MRPL44, TTPA, MYOM3, GALNT15, SMOC2, ITGBL1, MSR1, HEY2, miR24-1 and PVT1 in a plurality of biomarkers chosen from the list of biomarkers in Table 2 for use in a method as claimed in claim 1. ### Claim 15 (canceled) ### Claim 16 (depends on 14) The panel of biomarkers of claim 14, for use in a method to assess the risk of developing heart disease or heart failure, in particular HCM, HOCM, ISCM or DCM the presence of heart disease or heart failure, in particular HCM, HOCM, ISCM or DCM, and/or the progression of heart disease or heart failure, in particular HCM, HOCM, ISCM or DCM. ### Claim 17 A kit for prognosing and/or diagnosing the risk of developing heart disease or heart failure, in particular HCM, HOCM, ISCM or DCM the presence of heart disease or heart failure, in particular HCM, HOCM, ISCM or DCM, and/or the progression of heart disease or heart failure, in particular HCM, HOCM, ISCM or DCM, comprising one or more means of detecting the methylation status and/or expression level of at least one methylation marker chosen from the group consisting of MFSD2B, MRPL44, TTPA, MYOM3, GALNT15, SMOC2, ITGBL1, MSR1, HEY2, miR24-1 and PVT1. ### Claim 18 (depends on 17) Use of the kit of claim 17 for prognosing and/or diagnosing the risk of developing heart disease or heart failure in particular HCM, HOCM, ISCM or DCM. ### Claim 19 A device for identifying heart disease or heart failure in a sample, in particular, HCM, HOCM, ISCM or DCM comprising: (a) an analyzing unit comprising a detection agent for determining the methylation status and/or expression level of at least one methylation marker selected from the group consisting of MFSD2B, MRPL44, TTPA, MYOM3, GALNT15, SMOC2, ITGBL1, MSR1, HEY2, miR24-1 and PVT1 (b) an evaluation unit comprising a data processor having tangibly embedded an algorithm for carrying out a comparison of the amount determined by the analyzing unit with a reference and which is capable of generating an output file containing a diagnosis established based on the said comparison.